{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139746597",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 324,
          "referenceAllele": "Q",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NP_861970.1:p.Gln324Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411146013",
          "hgvs": "NM_181832.3:c.970C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184406"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849203[alleleid]",
        "alleleId": 849203,
        "preferredName": "NM_000268.4(NF2):c.970C>G (p.Gln324Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/846276",
        "RCV": [
          "RCV001049541"
        ],
        "variationId": 846276
      }
    ]
  },
  "type": "amino-acid"
}